EDNRB, endothelin receptor type B, 1910

N. diseases: 215; N. variants: 15
Disease: Waardenburg Syndrome Type 2 ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		0.310 GeneticVariation disease BEFREE EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. 28236341 2017